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Description for Protein MAN2B1

mannosidase, alpha, class 2B, member 1
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 3)
Summary:
This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
3.2.1.24
KEGG - Orthology:
K12311
KEGG - Pathway(s):
hsa00511; hsa04142
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Mannosidase, alpha B, lysosomal; MANB; Mannosidase, alpha, class 2B, member 1; Lysosomal alpha-mannosidase; Lysosomal acid alpha-mannosidase; LAMAN
Approved Symbol:
MAN2B1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 0
No human (de-) phosphorylation sites; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Alpha-mannosidosis, type I(Pd);
  • Alpha-mannosidosis, type II(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02007 Entrez Gene ID: 4125 OMIM ID: 609458 Swissprot Accession: O00754;